U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

COQ10B coenzyme Q10B [ Homo sapiens (human) ]

Gene ID: 80219, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
COQ10Bprovided by HGNC
Official Full Name
coenzyme Q10Bprovided by HGNC
Primary source
HGNC:HGNC:25819
See related
Ensembl:ENSG00000115520 MIM:620737; AllianceGenome:HGNC:25819
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable ubiquinone binding activity. Predicted to be involved in cellular respiration and ubiquinone biosynthetic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 15.0), bone marrow (RPKM 11.9) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2q33.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197453552..197475310)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197937200..197958936)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198318276..198340034)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA4 Neighboring gene splicing factor 3b subunit 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 Neighboring gene RNA, U6 small nuclear 1029, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:198317938-198318554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16938 Neighboring gene uncharacterized LOC124907951 Neighboring gene small nucleolar RNA, H/ACA box 105B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16939 Neighboring gene heat shock protein family D (Hsp60) member 1 Neighboring gene HSPE1-MOB4 readthrough Neighboring gene heat shock protein family E (Hsp10) member 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy. Yen HC, et al. Biomolecules, 2022 Feb 20. PMID 35204836, Free PMC Article
  2. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. Naess K, et al. J Pediatr, 2021 Jan. PMID 32827528
  3. Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer. El-Attar E, et al. Asian Pac J Cancer Prev, 2020 Feb 1. PMID 32102525, Free PMC Article
  4. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
    Title: Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
  2. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
    Title: Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
  3. Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
    Title: Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Clone Names

  • FLJ13448

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquinone binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular respiration IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
coenzyme Q-binding protein COQ10 homolog B, mitochondrial
Names
coenzyme Q10 homolog B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320818.2 → NP_001307747.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC010746
    Consensus CDS
    CCDS82551.1
    UniProtKB/TrEMBL
    B8ZZX2
    Related
    ENSP00000386785.1, ENST00000409398.5
    Conserved Domains (1) summary
    cd07813
    Location:36 → 166
    COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

  2. NM_001320819.2 → NP_001307748.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA232326, AC010746, BC022453, DC328985, HY088880
    Consensus CDS
    CCDS82552.1
    UniProtKB/TrEMBL
    B8ZZV9
    Related
    ENSP00000387223.1, ENST00000409010.1
    Conserved Domains (1) summary
    cd07813
    Location:50 → 188
    COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

  3. NM_001320820.2 → NP_001307749.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AA232326, AC010746, AK294093, BC022453
    UniProtKB/Swiss-Prot
    Q9H8M1
    Conserved Domains (1) summary
    cd07813
    Location:35 → 173
    COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

  4. NM_025147.5 → NP_079423.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_079423.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC010746
    Consensus CDS
    CCDS2319.1
    UniProtKB/Swiss-Prot
    B7Z1Y4, Q9H8M1
    Related
    ENSP00000263960.2, ENST00000263960.7
    Conserved Domains (1) summary
    cd07813
    Location:78 → 216
    COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    197453552..197475310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    197937200..197958936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H8M1.1 GenPept UniProtKB/Swiss-Prot:Q9H8M1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous